FERNANDO SCAGLIA to Leigh Disease
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Leigh Disease.
Connection Strength
2.401
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Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures. Am J Med Genet A. 2019 10; 179(10):2138-2143.
Score: 0.627
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Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. Am J Med Genet A. 2019 05; 179(5):803-807.
Score: 0.612
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LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. Am J Med Genet A. 2018 05; 176(5):1184-1189.
Score: 0.577
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Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation. Mol Genet Metab. 2011 Jun; 103(2):153-60.
Score: 0.351
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TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. Mol Genet Metab. 2021 02; 132(2):146-153.
Score: 0.174
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Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. AJNR Am J Neuroradiol. 2005 Aug; 26(7):1675-80.
Score: 0.060